ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645472916
Gene: PTH1R
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000318055
RCV000377198
RCV000714732
RCV001001084
ClinVar Variation:
345594
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000307.1:p.Val419Ile
CA2359473
NM_000316.3:c.1255G>A